(CTG)n expansions in various tissues from a myotonic dystrophy patient

✍ Scribed by Masanobu Kinoshita; Ryosuke Takahashi; Takashi Hasegawa; Tetsuo Komori; Ryuji Nagasawa; Kazuhiko Hirose; Hitoshi Tanabe

• Publisher: John Wiley and Sons
• Year: 1996
• Tongue: English
• Weight: 293 KB
• Volume: 19
• Category: Article
• ISSN: 0148-639X
• DOI: 10.1002/(sici)1097-4598(199602)19:2<240::aid-mus21>3.0.co;2-x

✦ Synopsis

Myotonic dystrophy (DM) is an autosomal dominant disorder characterized by highly variable clinical features that include myotonia, progressive muscle weakness, smooth muscle involvement, hypersomnia, testicular atrophy, endocrine abnormalities, cardiac conduction blocks, and ~a t a r a c t . ~ The molecular basis of DM is the unstable expansion of a CTG triplet repeat in the gene encoding myotonin protein kinase. Elongation of (CTG), expansions from one generation to another correlates with the increasing severity of the disease seen in successive generations, a unique feature of DM known as " a n t i ~i p a t i o n . " ~~~ The somatic instability of (CTG), repeats also has been r e p ~r t e d . ' , ~. ~, ' ~ This raises the interesting question as to whether there is a relationship between the degree of (CTG), expansion in various tissues and the extent of multisystemic involvement in DM. We therefore used Southern blot analysis to investigate (CTG), expansions in 22 types of tissue obtained at autopsy from a DM patient.